The first identified French family with dentatorubral‐pallidoluysian atrophy
Identifieur interne : 003310 ( Istex/Corpus ); précédent : 003309; suivant : 003311The first identified French family with dentatorubral‐pallidoluysian atrophy
Auteurs : Alain Destée ; Isabelle Delalande ; Isabelle Vuillaume ; Susanna Schraen-Maschke ; Luc Defebvre ; Bernard SablonnièreSource :
- Movement Disorders [ 0885-3185 ] ; 2000-09.
English descriptors
Abstract
We report the first French family with dentatorubralpallidoluysian atrophy (DRPLA) in which three members, a 36‐year‐old woman (proband), her 34‐year‐old sister, and 14‐year‐old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.
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DOI: 10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9
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ISTEX:5E114D2AD5C807396C70546C187589E78A0C561DLe document en format XML
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There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Alain Destée MD, PhD</name><affiliations><json:string>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. 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Salengro, Lille, France</json:string></affiliations></json:item><json:item><name>Luc Defebvre MD, PhD</name><affiliations><json:string>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</json:string></affiliations></json:item><json:item><name>Bernard Sablonnière MD, PhD</name><affiliations><json:string>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. 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Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. 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There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. 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There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>The first identified French family with dentatorubral‐pallidoluysian atrophy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Dentatorubral‐Pallidoluysian Atrophy</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The first identified French family with dentatorubral‐pallidoluysian atrophy</title></titleInfo><name type="personal"><namePart type="given">Alain</namePart><namePart type="family">Destée</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</affiliation><description>Correspondence: Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro, CHRU, 59037, Lille Cedex, France</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Isabelle</namePart><namePart type="family">Delalande</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Isabelle</namePart><namePart type="family">Vuillaume</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susanna</namePart><namePart type="family">Schraen‐Maschke</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luc</namePart><namePart type="family">Defebvre</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bernard</namePart><namePart type="family">Sablonnière</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2000-09</dateIssued><dateCaptured encoding="w3cdtf">2000-01-07</dateCaptured><dateValid encoding="w3cdtf">2000-04-02</dateValid><copyrightDate encoding="w3cdtf">2000</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="references">13</extent><extent unit="words">24120</extent></physicalDescription><abstract lang="en">We report the first French family with dentatorubralpallidoluysian atrophy (DRPLA) in which three members, a 36‐year‐old woman (proband), her 34‐year‐old sister, and 14‐year‐old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</abstract><note type="funding">CHRU of Lille</note><subject lang="en"><genre>Keywords</genre><topic>Dentatorubral</topic><topic>Pallidoluysian atrophy</topic><topic>CAG repeat</topic><topic>Incomplete penetrance</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2000</date><detail type="volume"><caption>vol.</caption><number>15</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>996</start><end>999</end><total>4</total></extent></part></relatedItem><identifier type="istex">5E114D2AD5C807396C70546C187589E78A0C561D</identifier><identifier type="DOI">10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9</identifier><identifier type="ArticleID">MDS1036</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2000 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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